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BUILD 130
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Reference SNP(refSNP) Cluster Report: rs1613931          
RefSNP
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:89/130
Map to Genome Build:36.3
Allele
Variation Class:SNP:
single nucleotide polymorphism
RefSNP Alleles:A/G
Ancestral Allele:G
Clinical Association:unknown
HGVS Names
NM_033045.3:c.551G>A
NP_149034.2:p.Arg184Gln
NT_029419.11:g.14920884C>T
XM_001718424.1:c.1357+3189G>C
Links , Linkout

SNP Details are organized in the following sections:
Submission Fasta Resource GeneView Map Diversity Validation

  Submitter records for this RefSNP Cluster back to top
The submission ss48416260 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs1613931 during BLAST analysis for the current build.

NCBI
Assay ID		Handle|Submitter IDValidation
Status		ss to rs
Orientation
/Strand		Alleles5' Near Seq 30 bp3' Near Seq 30 bpEntry
Date		Update
Date		Build
Added		Molecule
Type		Freq
Warning		Ancestral
Allele		Success
Rate
ss2428645SC_JCM|AP002519.2_6146fwd/TA/Ggctatttctgtgccctgtggatttaggtgcgttcctagagcagcagaataagctcctaga11/03/0010/10/0389Genomicunknown
ss3205768YUSUKE|IMS-JST065852rev/BC/Ttctaggagcttattctgctgctctaggaacgaacctaaatccacagggcacagaaatggc09/05/0110/10/03100Genomicunknown
ss11018421BCM_SSAHASNP|chr12.NT_029419.10_14920884rev/BC/Ttctaggagcttattctgctgctctaggaacgaacctaaatccacagggcacagaaatggc07/01/0310/10/03116Genomicunknown
ss48416260APPLERA_GI|hCV9605794byFreqrev/BC/Ttctaggagcttattctgctgctctaggaacgaacctaaatccacagggcacagaaatggc09/28/0511/03/06126Genomicunknown
ss69109166PERLEGEN|PGP04316232byFreqrev/BC/Ttctaggagcttattctgctgctctaggaacgaacctaaatccacagggcacagaaatggc01/30/0708/14/07127Genomicunknown
ss79023089HGSV|Cor18507_SNV_20070510.chr12_51063845rev/BC/Ttctaggagcttattctgctgctctaggaacgaacctaaatccacagggcacagaaatggc10/19/0710/21/07129Genomicunknown
ss83991493HGSV|Cor19240_SNV_20070510.chr12_51063845rev/BC/Ttctaggagcttattctgctgctctaggaacgaacctaaatccacagggcacagaaatggc11/30/0712/06/07130Genomicunknown
ss1119446161000GENOMES|CEU.trio.12.15.2008_2736703_chr12_51063845rev/BC/Ttctaggagcttattctgctgctctaggaacgaacctaaatccacagggcacagaaatggc12/15/0812/17/08130Genomicunknown
ss118808095ILLUMINA-UK|NA18507_000067176_NCBI36.1_chr12_51063845rev/BC/Ttctaggagcttattctgctgctctaggaacgaacctaaatccacagggcacagaaatggc01/21/0901/21/09130Genomic99 %

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs1613931|allelePos=301|totalLen=601|taxid=9606|snpclass=1|alleles='A/G'|mol=Genomic|build=130
 ACCCTTCCAA CTTCCTGATG TACCAGTGTA CAGCTTTCTT AGAGACTGGA TAGGGGAATG
 GTACTGAAGT GCTATGGTTC AAAACCCCAT ATTGGTAACT AGGCCTAGCC GAGCACAAGG
 AGGGAGTCAC AACCTGCCCT TCCAGCTTCT GCTGAGTTAG TGGAGGAATG AAAGTCAGCA
 GAGGAGAGAA CCCTGTCGAC ATGTGGTCAA GTCATCGCTG GCCATCTCAA GAGCTTGGTC
 AAGGCATGAA CCCTATCAAG CACTTCAAAT GCCATTTCTG TGCCCTGTGG ATTTAGGTTC
 R
 GTTCCTAGAG CAGCAGAATA AGCTCCTAGA GACCAAGTGG AGCTTCCTCC AAGAGCAGAA
 ATGTATCAGG AGCAATCTGG AGCCACTCTT CGAGAGCTAC ATCACCAACC TGCGGAGGCA
 GTTGGAGGTG CTGGTCAGTG ATCAGGCCCG GCTCCAGGCT GAGAGGAACC ACCTGCAGGA
 TGTCCTAGAG GGCTTCAAGA AGAAGTGAGT GACATCTGAG CTGCACAGAC CAGTGACAGG
 CCAGGCCTGG CCCCAGAATT AGCTGCCAAG CTCAGATGAG AGCAGCTGGA AGGATCAGGG

  GeneView back to top

GeneView via analysis of contig annotation:  

View more variation on this gene (click to hide).
Include clinically associated: in gene region cSNP has frequency double hit
Assembly SNP to Chr Chr Chr position Contig Contig position Allele
Function mRNA Protein
mRNA to Chr Accession Position Allele change Accession Position Residue change
on assembly: is labeled at position on chromosome .

GeneView via analysis of contig annotation: N/A.

GeneView via direct blast against RefSeq sequences (used when no gene model is available):

Function Chr mRNA Protein
SNP to mRNA Accession Position Allele change Accession Position Residue change
on assembly: is labeled at position on chromosome .

GeneView via direct blast against RefSeq sequences (used when no gene model is available): N/A


  Integrated Maps: back to top
Genome Build Chr Chr Pos Contig Contig Pos SNP to
Chr		 Contig
allele		 Group term Group label Contig label Neighbor
SNP		 Map Method
doesn't map to any assembly.

  NCBI Resource Links back to top
Resource
Submitter-Referenced
GenBank
NT_029419 AC078865
dbSNP Blast Analysis
UniGene Cluster ID
272336

  Population Diversity back to top

Sample AscertainmentGenotype Detailnew.gifAlleles
ss# Population Individual
Group		 Chrom.
Sample Cnt.
 Source A/A
 A/G
 G/G
 HWP A
 G
ss48416260 HapMap-YRI Sub-Saharan African 102 IG 0.392 0.608 0.003 0.696 0.304
AGI_ASP population multiple 60 IG 0.267 0.267 0.467 0.020 0.400 0.600
ss69109166 HapMap-CEU European 120 GF 0.083 0.917 0.042 0.958
HapMap-HCB Asian 90 GF 0.022 0.978 0.011 0.989
HapMap-JPT Asian 90 GF 0.067 0.933 0.033 0.967
HapMap-YRI Sub-Saharan African 120 GF 0.367 0.633 0.183 0.817
Concordant Genotype Total Sample A/A A/G G/G
ss48416260 140
RefSNP Genotype Summary Total Individual A/A A/G G/G
rs1613931 214
Discordant Genotypes:
Indiviudal
SampleID		 SubSNP(ss) Genotype Population
Handle		 Submitter
Population		 Submitter
SampleID		 SampleID
Alias		 Submission
Batch		 NCBI
ProbeID
5132 ss48416260 C/T CSHL-HAPMAP HapMap-YRI NA18500 YOR004.01 r27_ch12_YRI_perlegen:genotyping_1.0.0 4571283
5134 ss48416260 C/T CSHL-HAPMAP HapMap-YRI NA19127 YOR077.02 r27_ch12_YRI_perlegen:genotyping_1.0.0 4571283
5135 ss48416260 C/T CSHL-HAPMAP HapMap-YRI NA19128 YOR077.03 r27_ch12_YRI_perlegen:genotyping_1.0.0 4571283
5136 ss48416260 T/T CSHL-HAPMAP HapMap-YRI NA19132 YOR101.01 r27_ch12_YRI_perlegen:genotyping_1.0.0 4571283
5137 ss48416260 C/T CSHL-HAPMAP HapMap-YRI NA19131 YOR101.02 r27_ch12_YRI_perlegen:genotyping_1.0.0 4571283
5138 ss48416260 T/T CSHL-HAPMAP HapMap-YRI NA19130 YOR101.03 r27_ch12_YRI_perlegen:genotyping_1.0.0 4571283
5140 ss48416260 C/T CSHL-HAPMAP HapMap-YRI NA19099 YOR105.02 r27_ch12_YRI_perlegen:genotyping_1.0.0 4571283
5141 ss48416260 T/T CSHL-HAPMAP HapMap-YRI NA19098 YOR105.03 r27_ch12_YRI_perlegen:genotyping_1.0.0 4571283
5143 ss48416260 C/T CSHL-HAPMAP HapMap-YRI NA19193 YOR112.02 r27_ch12_YRI_perlegen:genotyping_1.0.0 4571283
5144 ss48416260 T/T CSHL-HAPMAP HapMap-YRI NA19192 YOR112.03 r27_ch12_YRI_perlegen:genotyping_1.0.0 4571283
5145 ss48416260 C/T CSHL-HAPMAP HapMap-YRI NA19240 YOR117.01 r27_ch12_YRI_perlegen:genotyping_1.0.0 4571283
5146 ss48416260 C/T CSHL-HAPMAP HapMap-YRI NA19238 YOR117.02 r27_ch12_YRI_perlegen:genotyping_1.0.0 4571283
5147 ss48416260 T/T CSHL-HAPMAP HapMap-YRI NA19239 YOR117.03 r27_ch12_YRI_perlegen:genotyping_1.0.0 4571283
5237 ss48416260 C/T CSHL-HAPMAP HapMap-YRI NA18501 YOR004.03 r27_ch12_YRI_perlegen:genotyping_1.0.0 4571283
5239 ss48416260 T/T CSHL-HAPMAP HapMap-YRI NA18505 YOR005.02 r27_ch12_YRI_perlegen:genotyping_1.0.0 4571283
5240 ss48416260 C/T CSHL-HAPMAP HapMap-YRI NA18504 YOR005.03 r27_ch12_YRI_perlegen:genotyping_1.0.0 4571283
5241 ss48416260 T/T CSHL-HAPMAP HapMap-YRI NA18506 YOR009.01 r27_ch12_YRI_perlegen:genotyping_1.0.0 4571283
5242 ss48416260 T/T CSHL-HAPMAP HapMap-YRI NA18508 YOR009.02 r27_ch12_YRI_perlegen:genotyping_1.0.0 4571283
5244 ss48416260 C/T CSHL-HAPMAP HapMap-YRI NA18860 YOR012.01 r27_ch12_YRI_perlegen:genotyping_1.0.0 4571283
5245 ss48416260 C/T CSHL-HAPMAP HapMap-YRI NA18858 YOR012.02 r27_ch12_YRI_perlegen:genotyping_1.0.0 4571283
5246 ss48416260 T/T CSHL-HAPMAP HapMap-YRI NA18859 YOR012.03 r27_ch12_YRI_perlegen:genotyping_1.0.0 4571283
5248 ss48416260 T/T CSHL-HAPMAP HapMap-YRI NA18517 YOR013.02 r27_ch12_YRI_perlegen:genotyping_1.0.0 4571283
5249 ss48416260 T/T CSHL-HAPMAP HapMap-YRI NA18516 YOR013.03 r27_ch12_YRI_perlegen:genotyping_1.0.0 4571283
5250 ss48416260 C/T CSHL-HAPMAP HapMap-YRI NA18521 YOR016.01 r27_ch12_YRI_perlegen:genotyping_1.0.0 4571283
5251 ss48416260 C/T CSHL-HAPMAP HapMap-YRI NA18523 YOR016.02 r27_ch12_YRI_perlegen:genotyping_1.0.0 4571283
5253 ss48416260 C/T CSHL-HAPMAP HapMap-YRI NA18872 YOR017.01 r27_ch12_YRI_perlegen:genotyping_1.0.0 4571283
5254 ss48416260 C/T CSHL-HAPMAP HapMap-YRI NA18870 YOR017.02 r27_ch12_YRI_perlegen:genotyping_1.0.0 4571283
5255 ss48416260 C/T CSHL-HAPMAP HapMap-YRI NA18871 YOR017.03 r27_ch12_YRI_perlegen:genotyping_1.0.0 4571283
5256 ss48416260 C/T CSHL-HAPMAP HapMap-YRI NA18854 YOR018.01 r27_ch12_YRI_perlegen:genotyping_1.0.0 4571283
5257 ss48416260 C/T CSHL-HAPMAP HapMap-YRI NA18852 YOR018.02 r27_ch12_YRI_perlegen:genotyping_1.0.0 4571283
5259 ss48416260 T/T CSHL-HAPMAP HapMap-YRI NA18857 YOR023.01 r27_ch12_YRI_perlegen:genotyping_1.0.0 4571283
5260 ss48416260 T/T CSHL-HAPMAP HapMap-YRI NA18855 YOR023.02 r27_ch12_YRI_perlegen:genotyping_1.0.0 4571283
5261 ss48416260 T/T CSHL-HAPMAP HapMap-YRI NA18856 YOR023.03 r27_ch12_YRI_perlegen:genotyping_1.0.0 4571283
5262 ss48416260 T/T CSHL-HAPMAP HapMap-YRI NA18863 YOR024.01 r27_ch12_YRI_perlegen:genotyping_1.0.0 4571283
5263 ss48416260 T/T CSHL-HAPMAP HapMap-YRI NA18861 YOR024.02 r27_ch12_YRI_perlegen:genotyping_1.0.0 4571283
5264 ss48416260 C/T CSHL-HAPMAP HapMap-YRI NA18862 YOR024.03 r27_ch12_YRI_perlegen:genotyping_1.0.0 4571283
5265 ss48416260 C/T CSHL-HAPMAP HapMap-YRI NA18914 YOR028.01 r27_ch12_YRI_perlegen:genotyping_1.0.0 4571283
5267 ss48416260 C/T CSHL-HAPMAP HapMap-YRI NA18913 YOR028.03 r27_ch12_YRI_perlegen:genotyping_1.0.0 4571283
5268 ss48416260 T/T CSHL-HAPMAP HapMap-YRI NA19094 YOR040.01 r27_ch12_YRI_perlegen:genotyping_1.0.0 4571283
5269 ss48416260 T/T CSHL-HAPMAP HapMap-YRI NA19093 YOR040.02 r27_ch12_YRI_perlegen:genotyping_1.0.0 4571283
5270 ss48416260 T/T CSHL-HAPMAP HapMap-YRI NA19092 YOR040.03 r27_ch12_YRI_perlegen:genotyping_1.0.0 4571283
5271 ss48416260 C/T CSHL-HAPMAP HapMap-YRI NA19103 YOR042.01 r27_ch12_YRI_perlegen:genotyping_1.0.0 4571283
5272 ss48416260 C/T CSHL-HAPMAP HapMap-YRI NA19102 YOR042.02 r27_ch12_YRI_perlegen:genotyping_1.0.0 4571283
5275 ss48416260 C/T CSHL-HAPMAP HapMap-YRI NA19137 YOR043.02 r27_ch12_YRI_perlegen:genotyping_1.0.0 4571283
5276 ss48416260 C/T CSHL-HAPMAP HapMap-YRI NA19138 YOR043.03 r27_ch12_YRI_perlegen:genotyping_1.0.0 4571283
5277 ss48416260 C/T CSHL-HAPMAP HapMap-YRI NA19202 YOR045.01 r27_ch12_YRI_perlegen:genotyping_1.0.0 4571283
5278 ss48416260 C/T CSHL-HAPMAP HapMap-YRI NA19201 YOR045.02 r27_ch12_YRI_perlegen:genotyping_1.0.0 4571283
5279 ss48416260 C/T CSHL-HAPMAP HapMap-YRI NA19200 YOR045.03 r27_ch12_YRI_perlegen:genotyping_1.0.0 4571283
5280 ss48416260 C/T CSHL-HAPMAP HapMap-YRI NA19173 YOR047.01 r27_ch12_YRI_perlegen:genotyping_1.0.0 4571283
5281 ss48416260 C/T CSHL-HAPMAP HapMap-YRI NA19172 YOR047.02 r27_ch12_YRI_perlegen:genotyping_1.0.0 4571283
5282 ss48416260 C/T CSHL-HAPMAP HapMap-YRI NA19171 YOR047.03 r27_ch12_YRI_perlegen:genotyping_1.0.0 4571283
5285 ss48416260 T/T CSHL-HAPMAP HapMap-YRI NA19203 YOR048.03 r27_ch12_YRI_perlegen:genotyping_1.0.0 4571283
5287 ss48416260 C/T CSHL-HAPMAP HapMap-YRI NA19209 YOR050.02 r27_ch12_YRI_perlegen:genotyping_1.0.0 4571283
5288 ss48416260 C/T CSHL-HAPMAP HapMap-YRI NA19210 YOR050.03 r27_ch12_YRI_perlegen:genotyping_1.0.0 4571283
5289 ss48416260 T/T CSHL-HAPMAP HapMap-YRI NA19208 YOR051.01 r27_ch12_YRI_perlegen:genotyping_1.0.0 4571283
5290 ss48416260 T/T CSHL-HAPMAP HapMap-YRI NA19206 YOR051.02 r27_ch12_YRI_perlegen:genotyping_1.0.0 4571283
5291 ss48416260 T/T CSHL-HAPMAP HapMap-YRI NA19207 YOR051.03 r27_ch12_YRI_perlegen:genotyping_1.0.0 4571283
5292 ss48416260 T/T CSHL-HAPMAP HapMap-YRI NA19161 YOR056.01 r27_ch12_YRI_perlegen:genotyping_1.0.0 4571283
5293 ss48416260 T/T CSHL-HAPMAP HapMap-YRI NA19159 YOR056.02 r27_ch12_YRI_perlegen:genotyping_1.0.0 4571283
5294 ss48416260 T/T CSHL-HAPMAP HapMap-YRI NA19160 YOR056.03 r27_ch12_YRI_perlegen:genotyping_1.0.0 4571283
5295 ss48416260 C/T CSHL-HAPMAP HapMap-YRI NA19221 YOR058.01 r27_ch12_YRI_perlegen:genotyping_1.0.0 4571283
5296 ss48416260 C/T CSHL-HAPMAP HapMap-YRI NA19222 YOR058.02 r27_ch12_YRI_perlegen:genotyping_1.0.0 4571283
5297 ss48416260 T/T CSHL-HAPMAP HapMap-YRI NA19223 YOR058.03 r27_ch12_YRI_perlegen:genotyping_1.0.0 4571283
5298 ss48416260 C/T CSHL-HAPMAP HapMap-YRI NA19120 YOR060.01 r27_ch12_YRI_perlegen:genotyping_1.0.0 4571283
5299 ss48416260 C/T CSHL-HAPMAP HapMap-YRI NA19116 YOR060.02 r27_ch12_YRI_perlegen:genotyping_1.0.0 4571283
5300 ss48416260 C/T CSHL-HAPMAP HapMap-YRI NA19119 YOR060.03 r27_ch12_YRI_perlegen:genotyping_1.0.0 4571283
5301 ss48416260 C/T CSHL-HAPMAP HapMap-YRI NA19142 YOR071.01 r27_ch12_YRI_perlegen:genotyping_1.0.0 4571283
5302 ss48416260 C/T CSHL-HAPMAP HapMap-YRI NA19140 YOR071.02 r27_ch12_YRI_perlegen:genotyping_1.0.0 4571283
5304 ss48416260 C/T CSHL-HAPMAP HapMap-YRI NA19154 YOR072.01 r27_ch12_YRI_perlegen:genotyping_1.0.0 4571283
5305 ss48416260 C/T CSHL-HAPMAP HapMap-YRI NA19152 YOR072.02 r27_ch12_YRI_perlegen:genotyping_1.0.0 4571283
5306 ss48416260 C/T CSHL-HAPMAP HapMap-YRI NA19153 YOR072.03 r27_ch12_YRI_perlegen:genotyping_1.0.0 4571283
5307 ss48416260 C/T CSHL-HAPMAP HapMap-YRI NA19145 YOR074.01 r27_ch12_YRI_perlegen:genotyping_1.0.0 4571283
5308 ss48416260 C/T CSHL-HAPMAP HapMap-YRI NA19143 YOR074.02 r27_ch12_YRI_perlegen:genotyping_1.0.0 4571283
5310 ss48416260 C/T CSHL-HAPMAP HapMap-YRI NA19129 YOR077.01 r27_ch12_YRI_perlegen:genotyping_1.0.0 4571283
Genotype data submitted for214 samples from214 individualsIndividual with multiple genotypes submission:0

  Validation Summary: back to top
Validation status Marker displays
Mendelian segregation		 PCR results confirmed
in multiple reactions		 Homozygotes detected
in individual genotype data
byClusterbyFreqwithHapMapFreqWith1000GenomeData UNKNOWN UNKNOWN UNKNOWN

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Revised: May 25, 2006 1:38 PM .